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First rib hypoplasia in Patau's disease

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Radiological evidence of hypoplasia or aplasia of the first rib is very often ignored as an indicative sign of 13 trisomy syndrome. Unless specifically sought for it is a feature which may be missed: it is nevertheless a remarkably frequent element of the disease picture. In the 4 personal cases now presented it was consistently present. An extensive survey of the literature lends support to the view that this symptom is of pathognomonic importance. Its significance from the genetic standpoint is also discussed.

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Authors and Affiliations

  1. Department of Radiology, “Regina Margherita” Childrenis Hospital, Piazza Polonia 94, I-10126, Turin, Italy

    P. Franceschini, E. Grassi & M. Randaccio

  2. Pedlatric Clinic, University of Turin, Italy

    C. Fabris & G. Bogetti

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  1. P. Franceschini
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  2. C. Fabris
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  3. G. Bogetti
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  4. E. Grassi
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  5. M. Randaccio
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Franceschini, P., Fabris, C., Bogetti, G. et al. First rib hypoplasia in Patau's disease. Pediatr Radiol 2, 65–67 (1974). https://doi.org/10.1007/BF00972850

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